RT Journal
A1 Greenawalt, Danielle M.
A1 Cui, Xiangfeng
A1 Wu, Yujun
A1 Lin, Yong
A1 Wang, Hui-Yun
A1 Luo, Minjie
A1 Tereshchenko, Irina V.
A1 Hu, Guohong
A1 Li, James Y.
A1 Chu, Yi
A1 Azaro, Marco A.
A1 DeCoste, Christina J.
A1 Chimge, Nyam-Osor
A1 Gao, Richeng
A1 Shen, Li
A1 Shih, Weichung J.
A1 Lange, Kenneth
A1 Li, Honghua
T1 Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21
JF Genome Research 
JO Genome Research 
YR 2006 
FD February 01 
VO 16 
IS 2 
SP 208 
OP 214 
DO 10.1101/gr.4641706 
UL http://genome.cshlp.org/content/16/2/208.abstract 
AB Although the haplotype structure of the human genome has been studied in great detail, very little is known about the mechanisms underlying its formation. To investigate the role of meiotic recombination on haplotype block formation, single nucleotide polymorphisms were selected at a high density from a 2.5-Mb region of human chromosome 21. Direct analysis of meiotic recombination by high-throughput multiplex genotyping of 662 single sperm identifies 41 recombinants. The crossovers were nonrandomly distributed within 16 small areas. All, except one, of these crossovers fall in areas where the haplotype structure exhibits breakdown, displaying a strong statistically positive association between crossovers and haplotype block breaks. The data also indicate a particular clustered distribution of recombination hotspots within the region. This finding supports the hypothesis that meiotic recombination makes a primary contribution to haplotype block formation in the human genome.